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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:orofacial cleft 13
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Accession:DOID:0080406 term browser browse the term
Definition:An orofacial cleft characterized by autosomal doninant inhertitance that has_material_basis_in variation in chromosome region 1p33 associated with enrichment of the T allele of SNP rs3827730. (DO)
Synonyms:exact_synonym: OFC13
 primary_id: MIM:613857


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19049
    physical disorder 5170
      orofacial cleft 157
        orofacial cleft 13 0
Path 2
Term Annotations click to browse term
  disease 19049
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        Congenital Abnormalities 7762
          Musculoskeletal Abnormalities 3419
            Craniofacial Abnormalities 2748
              Maxillofacial Abnormalities 311
                Jaw Abnormalities 265
                  orofacial cleft 157
                    orofacial cleft 13 0
paths to the root